Article
The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.
Clinical genetics - 1 Nov 2015
Levi Z, Kariv R, Barnes-Kedar I, Goldberg Y, Half E, Morgentern S, Eli B, Baris H N, Vilkin A, Belfer R G, Niv Y, Elhasid R, Dvir R, Abu-Freha N, Cohen S
Abstract excerpt
Data on the clinical presentation of constitutional mismatch repair deficiency syndrome (CMMRD) is accumulating. However, as the extraintestinal manifestations are often fatal and occur at early age, data on the systematic evaluation of the gastrointestinal tract is scarce. Here we describe 11 su...
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